PCDHB3 K41R - GET-Evidence

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Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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PCDHB3 K41R

(PCDHB3 Lys41Arg)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr5:140480355: 9.2% (994/10758) in EVS
  • G @ chr5:140460538: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 9.2% (994/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr5:140480355

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
hom G @ chr5:140480355

 

Added in this revision:

hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532
het G @ chr5:140480355

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr5:140460539

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr5:140460539

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr5:140460539

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr5:140460539

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr5:140460539

 

Other external references
 

    dbSNP
  • rs31849
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (7 hits -- see all)
  • PCDHB3 Gene - GeneCards | PCDB3 Protein | PCDB3 Antibody
    EntrezGene summary for PCDHB3: This gene is a member of the protocadherin beta gene ... PCDHB3 Gene in genomic location: bands according to Ensembl, locations according to (and ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=PCDHB3
  • AceView: Gene:PCDHB3, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=PCDHB3
  • Table 3 Text
    ... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
    icr.ac.uk/research/research_sections/.../2842.txt
  • Protocadherin beta-3 precursor - Homo sapiens (Human)
    PCDHB3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... K R: dbSNP rs31849. VAR_024391. Natural variant. 207. 1. E K: dbSNP ...
    www.uniprot.org/uniprot/Q9Y5E6
  • 56132
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=56132
  • UniProt: Q9Y5E6
    DT 01-NOV-1999, sequence version 1. DT 20-APR-2010, entry version 82. DE RecName: ... GC05P140460; -. DR H-InvDB; HIX0032374; -. DR HGNC; HGNC:8688; PCDHB3. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9Y5E6

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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